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Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.


ABSTRACT: Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways previously implicated in Autism Spectrum Disorders, including the mTOR signaling and the ubiquitin-proteasome cascades. A careful screening of the 16p13.11 region is warranted in patients with childhood onset psychosis.

SUBMITTER: Brownstein CA 

PROVIDER: S-EPMC4833544 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Brownstein Catherine A CA   Kleiman Robin J RJ   Engle Elizabeth C EC   Towne Meghan C MC   D'Angelo Eugene J EJ   Yu Timothy W TW   Beggs Alan H AH   Picker Jonathan J   Fogler Jason M JM   Carroll Devon D   Schmitt Rachel C O RC   Wolff Robert R RR   Shen Yiping Y   Lip Va V   Bilguvar Kaya K   Kim April A   Tembulkar Sahil S   O'Donnell Kyle K   Gonzalez-Heydrich Joseph J  

American journal of medical genetics. Part A 20160216 5


Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways  ...[more]

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